I160T (p.Ile160Thr) variant of VPS35 (Q96QK1)
I160T (p.Ile160Thr) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I160T (p.Ile160Thr) variant details
- p.Ile160Thr
- TOPMed rs1370792454
- gnomAD rs1370792454
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.22
- CADD 22.60
- PolyPhen-2 0.08
- SIFT 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available